Varaico: Literature-Extracted Genetic Variants

ATP13A2

565 papers

RefSeq Summary

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also re...

Pfam Domains

P5-ATPaseaa 31–176UCSCP5-type ATPase cation transporter

E1-E2_ATPaseaa 290–412UCSCP-type ATPase actuator domain

Cation_ATPaseaa 621–731UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase cation transporting 13A2

HGNC Previous Symbol

PARK9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022089.4

p.D967H

c.2899G>C

Surrounding Variants

2 papers

NM_001141973.3

p.D962N

c.2884G>A

1 paper

NM_001141973.3

p.F958V

c.2872T>G

1 paper

NM_022089.4

p.V976A

c.2927T>C

3 papers

NM_001141974.3

p.R936C

c.2806C>T

NM_022089.4

p.R980C

c.2938C>T

1 paper

NM_022089.4

p.I954L

c.2860A>C

15 papers

NM_022089.4

p.R980H

c.2939G>A

NM_001141973.3

p.R975H

c.2924G>A

1 paper

NM_022089.4

p.T981M

c.2942C>T

1 paper

NM_022089.4

p.G982_P983ins1

c.2946_2947insCAG

1 paper

NM_022089.4

p.P983S

c.2947C>T

2 papers

NM_022089.4

p.L985L

c.2955G>A

1 paper

NM_022089.4

p.G988delFs

c.2962delC

1 paper

NM_022089.4

p.R989W

c.2965C>T